Preferred Label : Tetralogy of Fallot;
NCIt definition : A congenital heart disorder characterized by the presence of the following four abnormalities:
ventricular septal defect, pulmonary stenosis, overriding aorta, and right ventricular
hypertrophy.;
Alternative definition : CDISC: Defect of the heart which includes all of the following: pulmonary stenosis,
interventricular septal defect, dextraposed aorta overriding the ventricular septum,
and enlarged right ventricular wall. (Makris S, Solomon HM, Clark R, Shiota K, Barbellion
S, Buschmann J, Ema M, Fujiwara M, Grote K, Hazelden KP, Hew KW, Horimoto M, Ooshima
Y, Parkinson M, Wise LD. Terminology of developmental abnormalities in common laboratory
mammals (Version 2). Part B. Birth Defects Res B Dev Reprod Toxicol. 2009 Aug;86(4):227-327.);
Origin ID : C84505;
UMLS CUI : C0039685;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Has associated anatomic sites
- Semantic type(s)
- UMLS correspondences (same concept)
- concept_is_in_subset
- disease_has_finding
- disease_has_primary_anatomic_site
